[晚发病的诊断和管理]
Philipp Hahn1, Rainer-Georg Siefen1, Korbinian Benz2
1Universitätsklinik für Kinder- und Jugendmedizin, Ruhr-Universität Bochum, St. Josef-Hospital, Bochum, Germany.
Fortschritte der Neurologie-Psychiatrie
|July 26, 2023
概括
庞培病是一种罕见的溶酶体储存障碍,呈现出各种症状,使得早期诊断至关重要. 酶替代疗法和基因检测改善了患有这种复杂肌肉疾病的患者的结果.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学是一种遗传学.
- 神经学 神经学
相关概念视频
Cardiomyopathy II: Dilated Cardiomyopathy
11
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
11
Chronic Pancreatitis II: Collaborative Care
113
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
Assessment:
113
Cardiomyopathy V: Interprofessional Care
16
Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
16
Cardiomyopathy VI: Nursing Management
13
Assessment: Nursing management of patients with cardiomyopathy begins with a thorough assessment of the patient's history, including a family history of cardiomyopathy or sudden cardiac death, personal history of heart disease, hypertension, diabetes, and any alcohol consumption or drug use.During the physical examination, assess vital signs, look for signs of heart failure (such as edema, jugular venous distention, and cyanosis), auscultate for abnormal heart sounds (like murmurs and gallops),...
13
Parkinson's Disease: Treatment
301
Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
301
Acute Pancreatitis II: Clinical Manifestations and Management
150
Acute pancreatitis presents a complex medical emergency characterized by rapid onset inflammation of the pancreas, demanding timely diagnosis and management to prevent complications. The condition primarily manifests through severe upper abdominal pain that often radiates to the back. This pain intensifies following the consumption of fatty foods. Accompanying symptoms such as nausea, vomiting, abdominal distention, fever, dyspnea, cyanosis, and jaundice can vary in intensity but significantly...
150


